Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation-dependent probe amplification in an infant with congenital generalized lipodystrophy

Παρόμοια τεκμήρια

• Whole‐exome sequencing identified novel compound heterozygous variants in a Chinese neonate with liver failure and review of literature
  ανά: Qin, Zailong, κ.ά.
  Έκδοση: (2020)
• Whole exome sequencing and methylation-specific multiplex ligation-dependent probe amplification applied to identify Angelman syndrome due to paternal uniparental disomy in two unrelated patients
  ανά: Li, Haibei, κ.ά.
  Έκδοση: (2019)
• Identification of pathogenic mutations in 6 Chinese families with multiple exostoses by whole-exome sequencing and multiplex ligation-dependent probe amplification: Case series
  ανά: Long, Xigui, κ.ά.
  Έκδοση: (2019)
• Oncogene amplification in male breast cancer: analysis by multiplex ligation-dependent probe amplification
  ανά: Kornegoor, Robert, κ.ά.
  Έκδοση: (2012)
• MAPD: a probe design suite for multiplex ligation-dependent probe amplification assays
  ανά: Zhi, Jizu
  Έκδοση: (2010)